Cytochemical flow analysis of intracellular G6PD and aggregate analysis of mosaic G6PD expression.
Eur J Haematol
; 100(3): 294-303, 2018 Mar.
Article
em En
| MEDLINE
| ID: mdl-29240263
ABSTRACT
BACKGROUND:
Medicines that exert oxidative pressure on red blood cells (RBC) can cause severe hemolysis in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Due to X-chromosome inactivation, females heterozygous for G6PD with 1 allele encoding a G6PD-deficient protein and the other a normal protein produce 2 RBC populations each expressing exclusively 1 allele. The G6PD mosaic is not captured with routine G6PD tests.METHODS:
An open-source software tool for G6PD cytofluorometric data interpretation is described. The tool interprets data in terms of % bright RBC, or cells with normal G6PD activity in specimens collected from 2 geographically and ethnically distinct populations, an African American cohort (USA) and a Karen and Burman ethnic cohort (Thailand) comprising 242 specimens including 89 heterozygous females.RESULTS:
The tool allowed comparison of data across 2 laboratories and both populations. Hemizygous normal or deficient males and homozygous normal or deficient females cluster at narrow % bright cells with mean values of 96%, or 6% (males) and 97%, or 2% (females), respectively. Heterozygous females show a distribution of 10-85% bright cells and a mean of 50%. The distributions are associated with the severity of the G6PD mutation.CONCLUSIONS:
Consistent cytofluorometric G6PD analysis facilitates interlaboratory comparison of cellular G6PD profiles and contributes to understanding primaquine-associated hemolytic risk.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Primaquina
/
Eritrócitos
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Glucosefosfato Desidrogenase
/
Deficiência de Glucosefosfato Desidrogenase
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Mosaicismo
/
Mutação
/
Antimaláricos
Tipo de estudo:
Clinical_trials
/
Observational_studies
/
Risk_factors_studies
Limite:
Female
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Humans
/
Male
País/Região como assunto:
America do norte
/
Asia
Idioma:
En
Revista:
Eur J Haematol
Assunto da revista:
HEMATOLOGIA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Estados Unidos